HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73329747G>T , CM000677.2:g.73329747G>T | GRCh38 |
NC_000015.9:g.73622088G>T , CM000677.1:g.73622088G>T | GRCh37 |
NC_000015.8:g.71409141G>T | NCBI36 |
NG_009063.1:g.44518C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.1416C>A MANE Select | ENSP00000261917.3:p.Ala472= | |
ENST00000261917.3:c.1416C>A | ENSP00000261917.3:p.Ala472= | |
NM_005477.2:c.1416C>A | NP_005468.1:p.Ala472= | |
XM_011521148.1:c.198C>A | XP_011519450.1:p.Ala66= | |
XM_011521148.2:c.198C>A | XP_011519450.1:p.Ala66= | |
NM_005477.3:c.1416C>A MANE Select | NP_005468.1:p.Ala472= |